Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924566G>T , CM000675.2:g.27924566G>T | GRCh38 |
| NC_000013.10:g.28498703G>T , CM000675.1:g.28498703G>T | GRCh37 |
| NC_000013.9:g.27396703G>T | NCBI36 |
| NG_008183.1:g.9536G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.717G>T MANE Select | ENSP00000370421.4:p.Pro239= | |
| ENST00000381033.4:c.717G>T | ENSP00000370421.4:p.Pro239= | |
| NM_000209.3:c.717G>T | NP_000200.1:p.Pro239= | |
| NM_000209.4:c.717G>T MANE Select | NP_000200.1:p.Pro239= |